Absence of altered expression of optineurin in primary open angle glaucoma patients. (Volume 18) - Abu-Amero, Khaled K.This article is from Molecular Vision, volume 18.AbstractPurpose: To investigate the expression level of the optineurin gene (OPTN) in the blood of primary open angle glaucoma (POAG) patients to determine if altered expression is playing a role in primary open angle glaucoma systemically. Methods: Patients (n=47) were eligible for inclusion if they met standard clinical criteria for POAG, including age greater than 40 years, intraocular pressure ≥21 mmHg in at least one eye before treatment, ...Downloads: 5

Unaltered myocilin expression in the blood of primary open angle glaucoma patients. (Volume 18) - Abu-Amero, Khaled K.This article is from Molecular Vision, volume 18.AbstractPurpose: To investigate the expression of the myocilin gene (MYOC) in the blood of primary open angle glaucoma (POAG) patients to determine if altered systemic expression is playing a role. Methods: Patients (n=47) were eligible for inclusion if they met standard clinical criteria for POAG. Control subjects (n=27) were recruited who were free from glaucoma by examination...Downloads: 2

Decreased total antioxidants status in the plasma of patients with pseudoexfoliation glaucoma. (Volume 17) - Abu-Amero, Khaled K.This article is from Molecular Vision, volume 17.AbstractPurpose: To evaluate total antioxidant status (TAS) in the plasma of pseudoexfoliation glaucoma (PEG) patients and to compare this level with a matching control group. Additionally, we aim to investigate the effect of the combined action of the lysyl oxidase-like 1 (LOXL1) mutation status with TAS level on the development of PEG. Methods: Plasma samples were obtained from 54 PEG patients and 54 controls of matching age, sex, and ethnicity...Downloads: 6

Keratoconus is associated with increased copy number of mitochondrial DNA. (Volume 20) - Abu-Amero, Khaled. K.This article is from Molecular Vision, volume 20.AbstractPurpose: To investigate the possible association of oxidative stress with keratoconus (KC), we estimated the changes in relative mitochondrial DNA (mtDNA) content. Methods: The study included 119 patients with KC and 208 controls matched for gender, ethnicity, and systemic disease status. We selected controls who were older than the patients since the mtDNA copy number tends to increase with age...Downloads: 11

Identification of genetic loci associated with primary angle-closure glaucoma in the basset hound. (Volume 20) - Ahram, Dina F.This article is from Molecular Vision, volume 20.AbstractPurpose: Primary angle-closure glaucoma (PACG) in dogs is usually caused by the gradual collapse of the iridocorneal angle and cleft, eventually leading to aqueous humor (AH) outflow obstruction. The condition occurs in several breeds of dogs and the prognosis for affected animals is typically poor. We have identified several basset hound (BH) pedigrees, as well as unrelated cases with characteristic PACG that in many aspects recapitulates...Downloads: 6

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome. (Volume 19) - Ajmal, MuhammadThis article is from Molecular Vision, volume 19.AbstractPurpose: To determine the genetic cause of Bardet-Biedl syndrome (BBS) in two consanguineous Pakistani families. Methods: Clinical characterization of the affected individuals in both families was performed with ophthalmic examination, electroretinography, electrocardiography, and liver and renal profiling. Seventeen genes are known to be associated with BBS, so exome sequencing was preferred over candidate gene sequencing...Downloads: 6

Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population. (Volume 17) - Awadalla, Mona S.This article is from Molecular Vision, volume 17.AbstractPurpose: To investigate the association between genetic variation at the matrix metalloproteinase-9 (MMP9) locus and primary angle closure glaucoma (PACG) in an Australian Caucasian population. Methods: A total of 107 Australian patients with PACG and 288 age and sex-matched controls were included in the current study. Tag single nucleotide polymorphisms (SNPs) were selected and genotyped to cover the majority of common variation within MM...Downloads: 3

Molecular characteristics of four Japanese cases with KCNV2 retinopathy: Report of novel disease-causing variants. (Volume 19) - Fujinami, KaoruThis article is from Molecular Vision, volume 19.AbstractPurpose: To describe the molecular characteristics of four Japanese patients with cone dystrophy with supernormal rod responses (CDSRR). Methods: Four individuals with a clinical and electrophysiological diagnosis of CDSRR were ascertained. The pathognomonic findings of the full-field electroretinograms (ERGs) included a decrease in the rod responses, a square-shaped a-wave, an excessive increase in the b-wave in the bright flash responses...Downloads: 7

Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: Report on a novel mutation. (Volume 18) - Haddad, Nour Maya N.This article is from Molecular Vision, volume 18.AbstractPurpose: Bietti crystalline dystrophy (BCD) is a rare autosomal recessive disorder caused by mutation of the cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2) gene and characterized by retinal pigmentary abnormalities and scattered deposits of crystals in the retina and the marginal cornea. The aim of this study was to investigate the spectrum of mutations in CYP4V2 in Lebanese families, and to characterize the phenotype of pa...Downloads: 5

Modulation of matrix metalloproteinase activity by EDTA prevents posterior capsular opacification. (Volume 18) - Hazra, SarbaniThis article is from Molecular Vision, volume 18.AbstractPurpose: To evaluate the effect of ethylenediaminetetraacetic acid (EDTA) on posterior capsular opacification (PCO) of rabbits and to assess its effect on intraocular tissues. Methods: Modulation of matrix metalloproteinase (MMP) activity in the aqueous following cataract surgery in rabbits and its prevention by different doses of EDTA was determined by zymography...Downloads: 5

IL-6 induction in desiccated corneal epithelium in vitro and in vivo. (Volume 17) - Higuchi, AkihiroThis article is from Molecular Vision, volume 17.AbstractPurpose: To investigate the effect of desiccation on secretion of inflammatory cytokines in corneal epithelial cells and in the rat desiccation model. Methods: A human corneal epithelial cell line (CEPI) was grown in keratinocyte growth medium 2 (KGM2) to approximately 80% confluence. The medium was aspirated and dishes were left for 0 to 30 min with the cover left open to dry the cells (short-term desiccation)...Downloads: 3

The human M?ller cell line MIO-M1 expresses opsins. (Volume 17) - Hollborn, MargritThis article is from Molecular Vision, volume 17.AbstractPurpose: To determine whether the human Müller cell line Moorfields/Institute of Ophthalmology-Müller 1 (MIO-M1) expresses opsins. Methods: The gene expression of opsins was determined by reverse-transcription PCR (RT–PCR). The presence of opsin proteins was determined by western blotting and immunocytochemistry. The light sensitivity of the cells was examined with imaging experiments using the calcium-sensitive dye Fluo-4...Downloads: 8